A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10946975



Internal ID6504184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:21211496..21297735hg38UCSC Ensembl
chr3:21252988..21339227hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3886240
hg1986240
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595502
Supporting Variants
SamplesNA20534
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10946975
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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